应用母体外周血循环胎儿 DNA 进行非侵入性产前诊断软骨发育不全症。
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.
机构信息
Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea.
出版信息
J Assist Reprod Genet. 2011 Feb;28(2):167-72. doi: 10.1007/s10815-010-9489-1. Epub 2010 Oct 21.
PURPOSE
To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma.
METHODS
We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. This method was applied in a non-invasive detection of the fetal achondroplasia using circulating fetal-DNA (cf-DNA) in maternal plasma. Maternal plasmas were obtained at 27 weeks of gestational age from women carrying an achondroplasia fetus or a normal fetus.
RESULTS
Two percent or less achondroplasia DNA was reliably detected by QF-PCR. In a woman carrying a normal fetus, analysis of cf-DNA showed only one peak of the wild-type G allele. In a woman expected an achondroplasia fetus, analysis of cf-DNA showed the two peaks of wild-type G allele and mutant-type A allele and accurately detected the fetal achondroplasia.
CONCLUSIONS
The non-invasive method using maternal plasma and QF-PCR may be useful for diagnosis of the fetal achondroplasia.
目的
利用母体血浆进行可靠的胎儿软骨发育不全的非侵入性检测。
方法
我们开发了一种适用于检测导致软骨发育不全的 FGFR3 突变（G1138A）的定量荧光聚合酶链反应（QF-PCR）方法。该方法应用于母体血浆中循环胎儿 DNA（cf-DNA）的胎儿软骨发育不全的非侵入性检测。在妊娠 27 周时，从携带软骨发育不全胎儿或正常胎儿的女性中获得母体血浆。
结果
QF-PCR 可可靠地检测到 2%或更低的软骨发育不全 DNA。在携带正常胎儿的女性中，cf-DNA 分析仅显示野生型 G 等位基因的一个峰。在预期患有软骨发育不全胎儿的女性中，cf-DNA 分析显示野生型 G 等位基因和突变型 A 等位基因的两个峰，并准确地检测到胎儿软骨发育不全。
结论
使用母体血浆和 QF-PCR 的非侵入性方法可能对胎儿软骨发育不全的诊断有用。
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